G21R (p.Gly21Arg) variant of KCNQ5 (Q9NR82)
G21R (p.Gly21Arg) in KCNQ5 (Q9NR82) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- TOPMed rs1449413875
- gnomAD rs1449413875
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available